DNMT3A c.2050G>A ;(p.V684I)

Variant ID: 2-25464463-C-T

NM_022552.4(DNMT3A):c.2050G>A;(p.V684I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: DNMT3A: V684I
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: DNMT3A: 2050G>A; V684I
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: DNMT3A: V684I
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: rs758490363
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Clinico-Biological Features and Clonal Hematopoiesis in Patients with Severe COVID-19.

Cancers
Duployez, Nicolas N; Demonchy, Jordane J; Berthon, CĂ©line C; Goutay, Julien J; Caplan, Morgan M; Moreau, Anne-Sophie AS; Bignon, Anne A; Marceau-Renaut, Alice A; Garrigue, Delphine D; Raczkiewicz, Imelda I; Geffroy, Sandrine S; Bucci, Maxime M; Alidjinou, Kazali K; Demaret, Julie J; Labalette, Myriam M; Brousseau, Thierry T; Dupont, Annabelle A; Rauch, Antoine A; Poissy, Julien J; Susen, Sophie S; Preudhomme, Claude C; Quesnel, Bruno B
Publication Date: 2020-07-21

Variant appearance in text: DNMT3A: 2050G>A; V684I
PubMed Link: 32708264
Variant Present in the following documents:
  • cancers-12-01992-s001.pdf
View BVdb publication page